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European Journal of Human Genetics : EJHG|March 2, 2012
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysisAndreas Leidenroth, Hanne Sørmo Sorte, Gregor Gilfillan, et al.BMC Genomics|January 15, 2016
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing dataPubudu Saneth Samarakoon, Hanne Sørmo Sorte, Asbjørg Stray-Pedersen, et al.BMC Genomics|August 9, 2014
Identification of copy number variants from exome sequence dataPubudu Saneth Samarakoon, Hanne Sørmo Sorte, Bjørn Evert Kristiansen, et al.Molecular Syndromology|October 27, 2016
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi SyndromeCaroline Lund, Pasquale Striano, Hanne Sørmo Sorte, et al.Journal of Hepatology|June 16, 2023
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45ARunar Almaas, Monica Atneosen-Åsegg, Mari Eknes Ytre-Arne, et al.The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.Pageof 1